{
  "id": 24164,
  "label": "RPGR-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100437",
  "properties": {
    "xrefs": [
      "GARD:0026213"
    ],
    "synonyms": [
      "RPGR retinopathy",
      "RPGR-related retinopathy with or without sino-oto-pulmonary symptoms",
      "COD1",
      "CORDX1",
      "RP3",
      "RPGR retinitis pigmentosa",
      "X-linked cone dystrophy 1",
      "X-linked cone-rod dystrophy 1",
      "X-linked cone-rod dystrophy type 1",
      "choroidoretinal degeneration with retinal reflex in heterozygous women",
      "cone dystrophy 1, X-linked",
      "cone dystrophy X-linked 1",
      "cone-rod degeneration, X-linked",
      "cone-rod dystrophy X-linked 1",
      "cone-rod dystrophy, X-linked, 1",
      "cone-rod dystrophy, X-linked, type 1",
      "macular degeneration, X-linked atrophic",
      "retinal ciliopathy due to mutation in the RPGR gene",
      "retinitis pigmentosa 15",
      "retinitis pigmentosa 3",
      "retinitis pigmentosa caused by mutation in RPGR",
      "retinitis pigmentosa type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A retinopathy caused by a variant in the X-linked gene, RPGR."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [
    {
      "id": 11405,
      "label": "retinitis pigmentosa 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        24164
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110414",
          "GARD:0010381",
          "MEDGEN:336999",
          "MESH:C564520",
          "OMIM:300029",
          "UMLS:C1845667"
        ],
        "synonyms": [
          "RP3",
          "RPGR retinitis pigmentosa",
          "retinitis pigmentosa 3",
          "retinitis pigmentosa caused by mutation in RPGR",
          "retinitis pigmentosa type 3",
          "Choroidoretinal Degeneration with retinal reflex in heterozygous Women",
          "cone-rod Degeneration, X-linked",
          "retinitis pigmentosa 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010227"
    },
    {
      "id": 11603,
      "label": "macular degeneration, X-linked atrophic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24164
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112157",
          "GARD:0015268",
          "MEDGEN:463134",
          "OMIM:300834",
          "UMLS:C3151784"
        ],
        "synonyms": [
          "macular degeneration, X-linked atrophic",
          "macular degeneration, X-linked atrophic, X-linked recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010443"
    },
    {
      "id": 11720,
      "label": "X-linked cone-rod dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20388,
        24164
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111008",
          "GARD:0010652",
          "MEDGEN:336777",
          "MESH:C564438",
          "OMIM:304020",
          "UMLS:C1844776"
        ],
        "synonyms": [
          "CORDX1",
          "X-linked cone-rod dystrophy type 1",
          "cone-rod dystrophy, X-linked, 1, X-linked recessive",
          "cone-rod dystrophy, X-linked, type 1",
          "cone dystrophy 1, X-linked",
          "cone dystrophy X-linked 1",
          "cone-rod dystrophy X-linked 1",
          "cone-rod dystrophy, X-linked, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010566"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}